Gene polymorphism (English Wikipedia)

"Genetic Testing Report-Glossary". National Human Genome Research Institute (NHGRI). Retrieved 2017-11-08.
Chanock, Stephen (2017-05-22). "Technologic Issues in GWAS and Follow-up Studies" (PDF). Genome.gov. Archived from the original (PDF) on 2018-08-22. Retrieved 2017-11-30.
"Polygenic Risk Scores". www.genome.gov. Retrieved 2024-02-17.
"Genomics and Medicine". www.genome.gov. Retrieved 2024-02-17.

harvard.edu

ui.adsabs.harvard.edu

Qin, Qin; Zhang, Chi; Yang, Xi; Zhu, Hongcheng; Yang, Baixia; Cai, Jing; Cheng, Hongyan; Ma, Jianxin; Lu, Jing (2013-11-15). "Polymorphisms in XPD Gene Could Predict Clinical Outcome of Platinum-Based Chemotherapy for Non-Small Cell Lung Cancer Patients: A Meta-Analysis of 24 Studies". PLOS ONE. 8 (11): e79864. Bibcode:2013PLoSO...879864Q. doi:10.1371/journal.pone.0079864. ISSN 1932-6203. PMC 3829883. PMID 24260311.

majordifferences.com

"Difference Between Minisatellite and Microsatellite".

nih.gov

pubmed.ncbi.nlm.nih.gov

Wu CC, Gupta T, Garcia V, Ding Y, Schwartzman ML (2014). "20-HETE and blood pressure regulation: clinical implications". Cardiology in Review. 22 (1): 1–12. doi:10.1097/CRD.0b013e3182961659. PMC 4292790. PMID 23584425.
Bodmer, J. G.; Marsh, S. G. E.; Albert, E. D.; Bodmer, W. F.; Bontrop, R. E.; Dupont, B.; Erlich, H. A.; Hansen, J. A.; Mach, B. (1999-04-01). "Nomenclature for factors of the HLA system, 1998". European Journal of Immunogenetics. 26 (2–3): 81–116. doi:10.1046/j.1365-2370.1999.00159.x. ISSN 1365-2370. PMID 10331156.
Karki, Roshan; Pandya, Deep; Elston, Robert C.; Ferlini, Cristiano (2015-07-15). "Defining "mutation" and "polymorphism" in the era of personal genomics". BMC Medical Genomics. 8: 37. doi:10.1186/s12920-015-0115-z. ISSN 1755-8794. PMC 4502642. PMID 26173390.
Karki, Roshan; Pandya, Deep; Elston, Robert C.; Ferlini, Cristiano (2015-07-15). "Defining "mutation" and "polymorphism" in the era of personal genomics". BMC Medical Genomics. 8: 37. doi:10.1186/s12920-015-0115-z. ISSN 1755-8794. PMC 4502642. PMID 26173390.
Chorley, Brian N.; Wang, Xuting; Campbell, Michelle R.; Pittman, Gary S.; Noureddine, Maher A.; Bell, Douglas A. (2008). "Discovery and verification of functional single nucleotide polymorphisms in regulatory genomic regions: Current and developing technologies". Mutation Research. 659 (1–2): 147–157. doi:10.1016/j.mrrev.2008.05.001. ISSN 0027-5107. PMC 2676583. PMID 18565787.
Albert, Paul R. (November 2011). "What is a functional genetic polymorphism? Defining classes of functionality". Journal of Psychiatry & Neuroscience. 36 (6): 363–365. doi:10.1503/jpn.110137. ISSN 1180-4882. PMC 3201989. PMID 22011561.
Sadee, W; Wang, D; Papp, AC; Pinsonneault, JK; Smith, RM; Moyer, RA; Johnson, AD (March 2011). "Pharmacogenomics of the RNA World: Structural RNA Polymorphisms in Drug Therapy". Clinical Pharmacology and Therapeutics. 89 (3): 355–365. doi:10.1038/clpt.2010.314. ISSN 0009-9236. PMC 3251919. PMID 21289622.
Mills RE, Pittard WS, Mullaney JM, Farooq U, Creasy TH, Mahurkar AA, Kemeza DM, Strassler DS, Ponting CP, Webber C, Devine SE (2011). "Natural genetic variation caused by small insertions and deletions in the human genome". Genome Research. 21 (6): 830–9. doi:10.1101/gr.115907.110. PMC 3106316. PMID 21460062.
Mullaney JM, Mills RE, Pittard WS, Devine SE (2010). "Small insertions and deletions (INDELs) in human genomes". Human Molecular Genetics. 19 (R2): R131–6. doi:10.1093/hmg/ddq400. PMC 2953750. PMID 20858594.
Hou, S.-M. (2002-04-01). "The XPD variant alleles are associated with increased aromatic DNA adduct level and lung cancer risk". Carcinogenesis. 23 (4): 599–603. doi:10.1093/carcin/23.4.599. ISSN 0143-3334. PMID 11960912.
Qin, Qin; Zhang, Chi; Yang, Xi; Zhu, Hongcheng; Yang, Baixia; Cai, Jing; Cheng, Hongyan; Ma, Jianxin; Lu, Jing (2013-11-15). "Polymorphisms in XPD Gene Could Predict Clinical Outcome of Platinum-Based Chemotherapy for Non-Small Cell Lung Cancer Patients: A Meta-Analysis of 24 Studies". PLOS ONE. 8 (11): e79864. Bibcode:2013PLoSO...879864Q. doi:10.1371/journal.pone.0079864. ISSN 1932-6203. PMC 3829883. PMID 24260311.
Benhamou S, Sarasin A (2005). "ERCC2 /XPD gene polymorphisms and lung cancer: a HuGE review". American Journal of Epidemiology. 161 (1): 1–14. doi:10.1093/aje/kwi018. PMID 15615908.
Liang, Gang; Xing, Deyin; Miao, Xiaoping; Tan, Wen; Yu, Chunyuan; Lu, Wenfu; Lin, Dongxin (2003-07-10). "Sequence variations in the DNA repair gene XPD and risk of lung cancer in a Chinese population". International Journal of Cancer. 105 (5): 669–673. doi:10.1002/ijc.11136. ISSN 1097-0215. PMID 12740916.
Misra, R Rita; Ratnasinghe, Duminda; Tangrea, Joseph A; Virtamo, Jarmo; Andersen, Mark R; Barrett, Michael; Taylor, Philip R; Albanes, Demetrius (2003). "Polymorphisms in the DNA repair genes XPD, XRCC1, XRCC3, and APE/ref-1, and the risk of lung cancer amongmale smokers in Finland". Cancer Letters. 191 (2): 171–178. doi:10.1016/s0304-3835(02)00638-9. PMID 12618330.
Moradveisi, Borhan; Muwakkit, Samar; Zamani, Fatemeh; Ghaderi, Ebrahim; Mohammadi, Ebrahim; Zgheib, Nathalie K. (2019-08-27). "ITPA, TPMT, and NUDT15 Genetic Polymorphisms Predict 6-Mercaptopurine Toxicity in Middle Eastern Children With Acute Lymphoblastic Leukemia". Frontiers in Pharmacology. 10: 916. doi:10.3389/fphar.2019.00916. ISSN 1663-9812. PMC 6718715. PMID 31507415.
March ME, Sleiman PM, Hakonarson H (2013). "Genetic polymorphisms and associated susceptibility to asthma". International Journal of General Medicine. 6: 253–65. doi:10.2147/IJGM.S28156. PMC 3636804. PMID 23637549.
Baldini, M.; Lohman, I. C.; Halonen, M.; Erickson, R. P.; Holt, P. G.; Martinez, F. D. (May 1999). "A Polymorphism* in the 5' flanking region of the CD14 gene is associated with circulating soluble CD14 levels and with total serum immunoglobulin E". American Journal of Respiratory Cell and Molecular Biology. 20 (5): 976–983. doi:10.1165/ajrcmb.20.5.3494. ISSN 1044-1549. PMID 10226067.
Eder, Waltraud; Klimecki, Walt; Yu, Lizhi; von Mutius, Erika; Riedler, Josef; Braun-Fahrländer, Charlotte; Nowak, Dennis; Martinez, Fernando D.; Allergy And Endotoxin Alex Study Team (September 2005). "Opposite effects of CD 14/-260 on serum IgE levels in children raised in different environments". The Journal of Allergy and Clinical Immunology. 116 (3): 601–607. doi:10.1016/j.jaci.2005.05.003. ISSN 0091-6749. PMID 16159630.

ncbi.nlm.nih.gov

Wu CC, Gupta T, Garcia V, Ding Y, Schwartzman ML (2014). "20-HETE and blood pressure regulation: clinical implications". Cardiology in Review. 22 (1): 1–12. doi:10.1097/CRD.0b013e3182961659. PMC 4292790. PMID 23584425.
Karki, Roshan; Pandya, Deep; Elston, Robert C.; Ferlini, Cristiano (2015-07-15). "Defining "mutation" and "polymorphism" in the era of personal genomics". BMC Medical Genomics. 8: 37. doi:10.1186/s12920-015-0115-z. ISSN 1755-8794. PMC 4502642. PMID 26173390.
Karki, Roshan; Pandya, Deep; Elston, Robert C.; Ferlini, Cristiano (2015-07-15). "Defining "mutation" and "polymorphism" in the era of personal genomics". BMC Medical Genomics. 8: 37. doi:10.1186/s12920-015-0115-z. ISSN 1755-8794. PMC 4502642. PMID 26173390.
Chorley, Brian N.; Wang, Xuting; Campbell, Michelle R.; Pittman, Gary S.; Noureddine, Maher A.; Bell, Douglas A. (2008). "Discovery and verification of functional single nucleotide polymorphisms in regulatory genomic regions: Current and developing technologies". Mutation Research. 659 (1–2): 147–157. doi:10.1016/j.mrrev.2008.05.001. ISSN 0027-5107. PMC 2676583. PMID 18565787.
Albert, Paul R. (November 2011). "What is a functional genetic polymorphism? Defining classes of functionality". Journal of Psychiatry & Neuroscience. 36 (6): 363–365. doi:10.1503/jpn.110137. ISSN 1180-4882. PMC 3201989. PMID 22011561.
Sadee, W; Wang, D; Papp, AC; Pinsonneault, JK; Smith, RM; Moyer, RA; Johnson, AD (March 2011). "Pharmacogenomics of the RNA World: Structural RNA Polymorphisms in Drug Therapy". Clinical Pharmacology and Therapeutics. 89 (3): 355–365. doi:10.1038/clpt.2010.314. ISSN 0009-9236. PMC 3251919. PMID 21289622.
Bull, Laura (2013). Genetics, Mutations, and Polymorphisms. Landes Bioscience.
Mills RE, Pittard WS, Mullaney JM, Farooq U, Creasy TH, Mahurkar AA, Kemeza DM, Strassler DS, Ponting CP, Webber C, Devine SE (2011). "Natural genetic variation caused by small insertions and deletions in the human genome". Genome Research. 21 (6): 830–9. doi:10.1101/gr.115907.110. PMC 3106316. PMID 21460062.
Mullaney JM, Mills RE, Pittard WS, Devine SE (2010). "Small insertions and deletions (INDELs) in human genomes". Human Molecular Genetics. 19 (R2): R131–6. doi:10.1093/hmg/ddq400. PMC 2953750. PMID 20858594.
Mizrachi, Ilene (2007-08-22), "GenBank: The Nucleotide Sequence Database", The NCBI Handbook [Internet], National Center for Biotechnology Information (US), retrieved 2024-02-17
Qin, Qin; Zhang, Chi; Yang, Xi; Zhu, Hongcheng; Yang, Baixia; Cai, Jing; Cheng, Hongyan; Ma, Jianxin; Lu, Jing (2013-11-15). "Polymorphisms in XPD Gene Could Predict Clinical Outcome of Platinum-Based Chemotherapy for Non-Small Cell Lung Cancer Patients: A Meta-Analysis of 24 Studies". PLOS ONE. 8 (11): e79864. Bibcode:2013PLoSO...879864Q. doi:10.1371/journal.pone.0079864. ISSN 1932-6203. PMC 3829883. PMID 24260311.
Moradveisi, Borhan; Muwakkit, Samar; Zamani, Fatemeh; Ghaderi, Ebrahim; Mohammadi, Ebrahim; Zgheib, Nathalie K. (2019-08-27). "ITPA, TPMT, and NUDT15 Genetic Polymorphisms Predict 6-Mercaptopurine Toxicity in Middle Eastern Children With Acute Lymphoblastic Leukemia". Frontiers in Pharmacology. 10: 916. doi:10.3389/fphar.2019.00916. ISSN 1663-9812. PMC 6718715. PMID 31507415.
March ME, Sleiman PM, Hakonarson H (2013). "Genetic polymorphisms and associated susceptibility to asthma". International Journal of General Medicine. 6: 253–65. doi:10.2147/IJGM.S28156. PMC 3636804. PMID 23637549.

ghr.nlm.nih.gov

"What are single nucleotide polymorphisms (SNPs)?".

thebalance.com

"Genetic Polymorphism and How It Lasts over Generations".

web.archive.org

Chanock, Stephen (2017-05-22). "Technologic Issues in GWAS and Follow-up Studies" (PDF). Genome.gov. Archived from the original (PDF) on 2018-08-22. Retrieved 2017-11-30.
"E-Locus (Recessive Yellow, Melanistic Mask Allele)". www.animalgenetics.us. Archived from the original on 2017-10-30. Retrieved 2017-11-08.

worldcat.org

search.worldcat.org

Bodmer, J. G.; Marsh, S. G. E.; Albert, E. D.; Bodmer, W. F.; Bontrop, R. E.; Dupont, B.; Erlich, H. A.; Hansen, J. A.; Mach, B. (1999-04-01). "Nomenclature for factors of the HLA system, 1998". European Journal of Immunogenetics. 26 (2–3): 81–116. doi:10.1046/j.1365-2370.1999.00159.x. ISSN 1365-2370. PMID 10331156.
Karki, Roshan; Pandya, Deep; Elston, Robert C.; Ferlini, Cristiano (2015-07-15). "Defining "mutation" and "polymorphism" in the era of personal genomics". BMC Medical Genomics. 8: 37. doi:10.1186/s12920-015-0115-z. ISSN 1755-8794. PMC 4502642. PMID 26173390.
Karki, Roshan; Pandya, Deep; Elston, Robert C.; Ferlini, Cristiano (2015-07-15). "Defining "mutation" and "polymorphism" in the era of personal genomics". BMC Medical Genomics. 8: 37. doi:10.1186/s12920-015-0115-z. ISSN 1755-8794. PMC 4502642. PMID 26173390.
Chorley, Brian N.; Wang, Xuting; Campbell, Michelle R.; Pittman, Gary S.; Noureddine, Maher A.; Bell, Douglas A. (2008). "Discovery and verification of functional single nucleotide polymorphisms in regulatory genomic regions: Current and developing technologies". Mutation Research. 659 (1–2): 147–157. doi:10.1016/j.mrrev.2008.05.001. ISSN 0027-5107. PMC 2676583. PMID 18565787.
Albert, Paul R. (November 2011). "What is a functional genetic polymorphism? Defining classes of functionality". Journal of Psychiatry & Neuroscience. 36 (6): 363–365. doi:10.1503/jpn.110137. ISSN 1180-4882. PMC 3201989. PMID 22011561.
Sadee, W; Wang, D; Papp, AC; Pinsonneault, JK; Smith, RM; Moyer, RA; Johnson, AD (March 2011). "Pharmacogenomics of the RNA World: Structural RNA Polymorphisms in Drug Therapy". Clinical Pharmacology and Therapeutics. 89 (3): 355–365. doi:10.1038/clpt.2010.314. ISSN 0009-9236. PMC 3251919. PMID 21289622.
Hou, S.-M. (2002-04-01). "The XPD variant alleles are associated with increased aromatic DNA adduct level and lung cancer risk". Carcinogenesis. 23 (4): 599–603. doi:10.1093/carcin/23.4.599. ISSN 0143-3334. PMID 11960912.
Qin, Qin; Zhang, Chi; Yang, Xi; Zhu, Hongcheng; Yang, Baixia; Cai, Jing; Cheng, Hongyan; Ma, Jianxin; Lu, Jing (2013-11-15). "Polymorphisms in XPD Gene Could Predict Clinical Outcome of Platinum-Based Chemotherapy for Non-Small Cell Lung Cancer Patients: A Meta-Analysis of 24 Studies". PLOS ONE. 8 (11): e79864. Bibcode:2013PLoSO...879864Q. doi:10.1371/journal.pone.0079864. ISSN 1932-6203. PMC 3829883. PMID 24260311.
Liang, Gang; Xing, Deyin; Miao, Xiaoping; Tan, Wen; Yu, Chunyuan; Lu, Wenfu; Lin, Dongxin (2003-07-10). "Sequence variations in the DNA repair gene XPD and risk of lung cancer in a Chinese population". International Journal of Cancer. 105 (5): 669–673. doi:10.1002/ijc.11136. ISSN 1097-0215. PMID 12740916.
Moradveisi, Borhan; Muwakkit, Samar; Zamani, Fatemeh; Ghaderi, Ebrahim; Mohammadi, Ebrahim; Zgheib, Nathalie K. (2019-08-27). "ITPA, TPMT, and NUDT15 Genetic Polymorphisms Predict 6-Mercaptopurine Toxicity in Middle Eastern Children With Acute Lymphoblastic Leukemia". Frontiers in Pharmacology. 10: 916. doi:10.3389/fphar.2019.00916. ISSN 1663-9812. PMC 6718715. PMID 31507415.
Baldini, M.; Lohman, I. C.; Halonen, M.; Erickson, R. P.; Holt, P. G.; Martinez, F. D. (May 1999). "A Polymorphism* in the 5' flanking region of the CD14 gene is associated with circulating soluble CD14 levels and with total serum immunoglobulin E". American Journal of Respiratory Cell and Molecular Biology. 20 (5): 976–983. doi:10.1165/ajrcmb.20.5.3494. ISSN 1044-1549. PMID 10226067.
Eder, Waltraud; Klimecki, Walt; Yu, Lizhi; von Mutius, Erika; Riedler, Josef; Braun-Fahrländer, Charlotte; Nowak, Dennis; Martinez, Fernando D.; Allergy And Endotoxin Alex Study Team (September 2005). "Opposite effects of CD 14/-260 on serum IgE levels in children raised in different environments". The Journal of Allergy and Clinical Immunology. 116 (3): 601–607. doi:10.1016/j.jaci.2005.05.003. ISSN 0091-6749. PMID 16159630.